Publications by authors named "Ana Maria Cobo"

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Clinical guide for the diagnosis and follow-up of myotonic dystrophy type 1, MD1 or Steinert's disease.
Gerardo Gutiérrez Gutiérrez, Jordi Díaz-Manera, Míriam Almendrote, Sharona Azriel, José Eulalio Bárcena, Ana María Cobo

Med Clin (Barc)· July 2019

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Actininopathy: A new muscular dystrophy caused by ACTN2 dominant mutations.
Marco Savarese, Johanna Palmio, Juan José Poza, Jan Weinberg, Montse Olive, Ana Maria Cobo

Ann Neurol· June 2019

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Expanding the importance of HMERF titinopathy: new mutations and clinical aspects.
Johanna Palmio, Sarah Leonard-Louis, Sabrina Sacconi, Marco Savarese, Sini Penttilä, Ana Maria Cobo

J Neurol· March 2019

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Copy number variation analysis increases the diagnostic yield in muscle diseases.
Salla Välipakka, Marco Savarese, Mridul Johari, Lydia Sagath, Meharji Arumilli, Ana-Maria Cobo

Neurol Genet· December 2017

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[Not Available].
Pedro J Modrego, José Gazulla, Ana-Maria Cobo, J Andoni Urtizberea

Med Sci (Paris)· November 2016

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Cancer risk in DM1 is sex-related and linked to miRNA-200/141 downregulation.
Roberto Fernández-Torrón, Mikel García-Puga, José-Ignacio Emparanza, Miren Maneiro, Ana-María Cobo

Neurology· September 2016

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New mutation of the desmin gene identified in an extended Indian pedigree presenting with distal myopathy and cardiac disease.
Atchayaram Nalini, Narayanappa Gayathri, Pascale Richard, Ana-Maria Cobo, J Andoni Urtizberea

Neurol India· March 2014

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A novel CRYAB mutation resulting in multisystemic disease.
Sabrina Sacconi, Léonard Féasson, Jean Christophe Antoine, Christophe Pécheux, Rafaelle Bernard, Ana Maria Cobo

Neuromuscul Disord· January 2012

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Myopathy with hexagonally cross-linked crystalloid inclusions: delineation of a clinico-pathological entity.
Kristl G Claeys, Jean-François Pellissier, Federico Garcia-Bragado, Joachim Weis, Andoni Urtizberea, Ana-Maria Cobo

Neuromuscul Disord· November 2010

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[Clinical and molecular features in a family with multiple endocrine neoplasia type-1 syndrome].
Angel Cosme, Mariano Alvarez, Adolfo Beguiristain, Ana María Cobo, Mercedes Robledo

Gastroenterol Hepatol· December 2008

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CTG expansion & haplotype analysis in DM1 gene in healthy Iranian population.
Bahareh Shojasaffar, Neda Moradin, Kimia Kahrizi, Ana Maria Cobo, Hossein Najmabadi

Can J Neurol Sci· May 2008

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[Molecular and clinical characteristics of a family with Alagille syndrome].
Angel Cosme, Ana María Cobo, Michèle Meunier-Rotival, Michelle Hadchouel, Paloma Jara

Med Clin (Barc)· January 2008

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Prenatal diagnosis in myotonic dystrophy type 1. Thirteen years of experience: implications for reproductive counselling in DM1 families.
Loreto Martorell, Ana Maria Cobo, Montserrat Baiget, Montserrat Naudó, Juan José Poza

Prenat Diagn· January 2007

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A common haplotype associated with the Basque 2362AG --> TCATCT mutation in the muscular calpain-3 gene.
Ana María Cobo, Ametz Sáenz, Juan José Poza, Miguel Urtasun, Begoña Indakoetxea

Hum Biol· October 2004

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